Living with Frias syndrome
A rare condition caused by a missing piece of chromosome 14, with eye, pituitary gland, hand and foot differences.
Understanding Frias syndrome
Features include eye differences (such as small or absent eyeballs, droopy eyelids, and wide-set eyes), an underdeveloped pituitary gland with growth hormone deficiency and slow growth, and hand and foot differences. Others can include low muscle tone, developmental delay, facial differences, urinary or genital differences, and hearing loss. Smaller deletions may vary in effect.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing eyeballs
- Underdeveloped pituitary gland
- Developmental delay
- Low muscle tone (hypotonia)
- Small lower jaw
- Droopy eyelids and bulging eyes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Ring14 USA and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by a missing piece (deletion) of chromosome 14. GARD lists autosomal dominant inheritance.
Also known as: 14q22-q23 microdeletion syndrome; 14q22q23 microdeletion syndrome; chromosome 14q22 deletion syndrome; del(14)(q22q23); growth deficiency, facial anomalies, and brachydactyly; monosomy 14q22-q23
Patient organizations
- Ring14 USAFrias syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Frias syndrome.
Explore research for Frias syndrome
Explore actively recruiting Frias syndrome studies with HealthSpark.
Find actively recruiting studies for Frias syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Frias syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Frias syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Frias syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.